Variant report

Variant	rs17469343
Chromosome Location	chr18:25743382-25743383
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFF	chr18:25743233-25743730	HepG2	liver:	n/a	n/a
2	MAFK	chr18:25743214-25743733	HepG2	liver:	n/a	n/a
3	CEBPB	chr18:25743107-25743464	IMR90	lung:	n/a	n/a
4	FOS	chr18:25743193-25743410	MCF10A-Er-Src	breast:	n/a	n/a
5	MAFK	chr18:25743362-25743641	Hela-S3	cervix:	n/a	n/a
6	MAFK	chr18:25743244-25743720	GM12878	blood:	n/a	n/a
7	MAFK	chr18:25743163-25743743	IMR90	lung:	n/a	n/a
8	NFIC	chr18:25742960-25743640	SK-N-SH	brain:	n/a	n/a
9	GATA3	chr18:25742976-25743679	SK-N-SH	brain:	n/a	n/a
10	POLR2A	chr18:25743076-25743554	SK-N-SH	brain:	n/a	n/a
11	MAFK	chr18:25743161-25743721	HepG2	liver:	n/a	n/a
12	MAFF	chr18:25743375-25743718	K562	blood:	n/a	n/a
13	MAFK	chr18:25743373-25743715	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:25740858..25743576-chr18:25744029..25745634,2	MCF-7	breast:

Variant related genes	Relation type
CDH2	TF binding region

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11083240	1.00[CEU][hapmap]
rs17445798	1.00[CEU][hapmap]
rs17446078	1.00[AFR][1000 genomes]
rs17468047	1.00[CEU][hapmap]
rs17468075	1.00[CEU][hapmap]
rs17468818	1.00[CEU][hapmap];1.00[AFR][1000 genomes]
rs17493493	1.00[CEU][hapmap]
rs2077362	1.00[CEU][hapmap]
rs2289664	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2761996	chr18:24866083-25818618	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:25717600-25753400	Weak transcription	Dnd41	blood
2	chr18:25726000-25745400	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr18:25728800-25754200	Weak transcription	HUVEC	blood vessel
4	chr18:25733600-25743400	Weak transcription	Fetal Brain Male	brain
5	chr18:25734600-25748200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr18:25734800-25749200	Weak transcription	Fetal Kidney	kidney
7	chr18:25736800-25747400	Enhancers	Liver	Liver
8	chr18:25737200-25743600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr18:25738800-25754200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr18:25739200-25743600	Enhancers	HepG2	liver
11	chr18:25739200-25747200	Weak transcription	Brain Cingulate Gyrus	brain
12	chr18:25739400-25751800	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr18:25740600-25743800	Enhancers	Osteobl	bone
14	chr18:25741000-25746800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr18:25741200-25744800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr18:25741200-25753200	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr18:25741600-25743400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr18:25741600-25743400	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr18:25741600-25743600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr18:25741600-25743600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr18:25741600-25743600	Enhancers	HSMM	muscle
22	chr18:25741800-25743400	Enhancers	Fetal Intestine Large	intestine
23	chr18:25741800-25743400	Enhancers	Ovary	ovary
24	chr18:25741800-25743600	Enhancers	Left Ventricle	heart
25	chr18:25741800-25743800	Enhancers	Muscle Satellite Cultured Cells	--
26	chr18:25741800-25744000	Enhancers	NH-A	brain
27	chr18:25742000-25743400	Enhancers	A549	lung
28	chr18:25742200-25743400	Enhancers	Fetal Intestine Small	intestine
29	chr18:25742200-25743600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr18:25742200-25743600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr18:25742200-25744400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr18:25742400-25743800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr18:25742400-25747200	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr18:25742400-25751800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr18:25742600-25751800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr18:25742600-25754200	Weak transcription	Brain Angular Gyrus	brain
37	chr18:25742800-25746200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr18:25742800-25746600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr18:25742800-25747200	Enhancers	Fetal Heart	heart
40	chr18:25742800-25749800	Weak transcription	Right Ventricle	heart
41	chr18:25742800-25755000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr18:25743000-25743400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr18:25743000-25743400	Weak transcription	Right Atrium	heart
44	chr18:25743000-25743800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr18:25743000-25751600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
46	chr18:25743200-25743400	Enhancers	Brain Anterior Caudate	brain
47	chr18:25743200-25743800	Enhancers	Brain Hippocampus Middle	brain
48	chr18:25743200-25745200	Enhancers	Brain Germinal Matrix	brain
49	chr18:25743200-25745200	Enhancers	Fetal Brain Female	brain

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